RESUMO
Hypohidrotic ectodermal dysplasia (Christ-Siemans-Touraine Syndrome) is reported in three male siblings. The patients gave a history of repeated hospital admissions from the age of 4 months for hyperpyrexia and seizures. They were being followed up for "febrile convulsions". Since the condition is familial, each member of the family should be carefully investigated for hair, teeth and sweating abnormalities in order to detect both homozygous and heterozygous forms of the condition (AU)
Assuntos
Pré-Escolar , Humanos , Masculino , Displasia Ectodérmica/genética , Hipo-Hidrose/genética , Displasia Ectodérmica/patologia , Hipo-Hidrose/genética , Hipotricose/genética , Síndrome , Anormalidades Dentárias/genética , Trinidad e TobagoRESUMO
Anhidrotic ectodermal dysplasia is a rare condition resulting from faulty development of the embryonic ectoderm and its derivatives. It is heredofamilial, sex linked and recessive. There may be some manifestation in the carrier female. In some families a dominant gene has been described. The disease is characterized by anhidrosis, hypotrichosis, and hypodontia. Other features commonly associated are prominent supraorbital ridges, depressed bridge of the nose, large deformed ears, fine wrinkling of the preiorbital skin, chronic rhinitis hoarseness, recurrent otitis, soft thin dry skin, and lack of body odor. The present communication describes the syndrome in a West Indian child of Spainsh-East Indian descent
